Article
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
FEBS letters - 1 Jan 1990
Koide T, Ishiura M, Iwai K, Inoue M, Kaneda Y, Okada Y, Uchida T
Abstract excerpt
We analyzed a male patient with Fabry's disease who had no activity of the lysosomal hydrolase alpha-galactosidase A (alpha-GalA) and female members of his family. We cloned a cDNA that encoded the mutant alpha-GalA, determined its nucleotide sequence, and found two nucleotide differences between the mutant and the wild-type cDNAs. Although one difference was silent, the other difference, a C-to-T transition at...
Topics
- Base Sequence
- Blotting, Northern
- Cells, Cultured
- DNA
- Fabry Disease
- Galactosidases
- Humans
- Lysosomes
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes